title: Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II.
authors.affiliation: Institute of Human Genetics, University of Bonn, Bonn, Germany.
authors.forename: S M
authors.initials: SM
authors.lastname: Pasternack
authors.forename: R C
authors.initials: RC
authors.lastname: Betz
authors.forename: F
authors.initials: F
authors.lastname: Brandrup
authors.forename: E F
authors.initials: EF
authors.lastname: Gade
authors.forename: O
authors.initials: O
authors.lastname: Clemmensen
authors.forename: A M
authors.initials: AM
authors.lastname: Lund
authors.forename: E
authors.initials: E
authors.lastname: Christensen
authors.forename: A
authors.initials: A
authors.lastname: Bygum
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis / Q000379:methods; D015785:Eye Diseases, Hereditary / Q000235:genetics; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D012873:Skin Diseases, Genetic / Q000235:genetics*; D014444:Tyrosine Transaminase / Q000235:genetics*; D020176:Tyrosinemias / Q000235:genetics*
chemical_list: D014444:Tyrosine Transaminase